Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting


A subset of colorectal cancer (CRC) cases are attributable to Lynch syndrome (LS), a hereditary form of CRC. Effective evaluation for LS can be done on CRC tumors to guide diagnostic testing. Increased diagnosis of LS allows for surveillance and risk reduction, which can mitigate CRC-related burden and prevent cancer-related deaths. We evaluated participation in LS screening among newly diagnosed adult CRC patients. Some cases were referred for genetics evaluation prior to study recruitment (selective screening). Those not referred directly were randomized to the intervention or control (usual care) arms. Control cases were observed for one year, then given information about LS screening. Patients who declined participation were followed through the medical record. Of 601 cases of CRC, 194 (32%) enrolled in our study and were offered LS screening, 43 (7%) were followed as a control group, 148 (25%) declined participation and 216 (36%) were ineligible [63 (10%) of which received prior selective screening]. Six and nine cases of LS were identified through the intervention and selective screening groups, respectively. Overall, a higher proportion of PMS2 variants were identified in the intervention (3/6, 50%) versus selective screening groups (2/9, 22%) (not statistically significant). Eighty-eight percent and 23% of intervention and control patients, respectively, received LS screening. No control patients were found to have LS. Systems-based approaches are needed to ensure we fully identify LS cases. The proportion of LS cases from this program was 4% of newly diagnosed cases of CRC, similar to other programs.

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This work was supported through grants by the National Cancer Institute: R01CA140377 (Goddard) and R01CA132829 (Syngal). The funding body had no role in the design of the study, collection and analysis of data or decision to publish. Dr. Syngal reports being a consultant for Myriad Genetics, Inc.

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Correspondence to Katrina A. B. Goddard.

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Clarke, E.V., Muessig, K.R., Zepp, J. et al. Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting. Familial Cancer 18, 317–325 (2019).

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  • Genetics
  • Colorectal cancer (CRC)
  • DNA mismatch repair (MMR) genes